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1,481 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, J-Shaped Sella Turcica

  • Pseudo-Hurler Polydystrophy

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Symptoms of Pseudo-Hurler polydystrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Coarse facial features Craniosynostosis J-shaped[familydiagnosis.com] opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Dystosis multiplex is characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped sella turcica[themedicalbiochemistrypage.org] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com]

  • Mucopolysaccharidosis

    Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 7

    sella turcica in the eyes: corneal opacity and iris coloboma in the nose: anteverted nostrils and a depressed nostril bridge in the mouth and oral areas: prominent alveolar[en.wikipedia.org] opacity and iris coloboma in the nose: anteverted nostrils and a depressed nostril bridge in the mouth and oral areas: prominent alveolar processes and cleft palate in the[en.wikipedia.org] The symptoms include: in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped[en.wikipedia.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1 H-S

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Dystosis multiplex is characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped sella turcica[themedicalbiochemistrypage.org] Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight.[orpha.net]

  • Mucopolysaccharidosis 6

    sella turcica (a saddle-shaped skull structure into which sits the bottom of the pituitary gland), and abnormal spacing of the teeth with dentigerous cysts.[themedicalbiochemistrypage.org] A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic[unboundmedicine.com] [rarediseases.org] Eyes Corneal Opacity A large head, short neck, corneal opacity , open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior[symptoma.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    We found the following main radiological findings: "J-shaped" sella turcica, dorsal kyphosis, broad and saber-shaped ribs, wedge-shaped beaking abnormality of the vertebral[scielo.br] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net] opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications.[icd10data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4

    Radiographic findings in MPS IVA (Fig. 2 ) can include odontoid hypoplasia, atlantoaxial subluxation, thickened skull, J- or omega-shaped sella turcica, flared ribs, short[ncbi.nlm.nih.gov] To give a synopsis of the disease: There is severe growth retardation (adult height 82 to 115 cm); the skull is unusually thick and dense; there are corneal opacities (clouding[medicinenet.com] They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities.[cags.org.ae]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4A

    Sagittal contrast-enhanced T1-weighted MR image shows the typical appearance of a J-shaped sella turcica (arrows). Mega cisterna magna (*) also can be seen. Figure 17.[pubs.rsna.org] Cornea Corneal opacities are universally present in all forms of MPS I.31 Fine grey punctate opacities are first seen in the anterior stroma; later, as the disease progresses[touchophthalmology.com] Visual problems Although corneal opacity has been reported [ 31 ], it is not generally a feature of MPS II and helps to distinguish the disorder clinically from severe MPS[link.springer.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Hypomandibular Faciocranial Dysostosis

    Overfriendliness Nystagmus-induced head nodding Early onset of sexual maturation Coronary artery stenosis Functional abnormality of male internal genitalia Dyssynergia Thyroid[mendelian.co] Hemihypertrophy intestinal web corneal opacity[?] Hemimegalencephaly[?] Hemiplegia[?] Hemiplegic migraine, familial[?] Hemoglobin C disease[?] Hemoglobin E disease[?][encyclopedia.kids.net.au] opacity Hemimegalencephaly Hemiplegia Hemiplegic migraine, familial Hemoglobin C disease Hemoglobin E disease Hemoglobin SC disease Hemoglobinopathy Hemoglobinuria Hemolytic[starrepublic.org]

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